Shared Genomic Segment Analysis: The Power to Find Rare Disease Variants

Shared genomic segment (SGS) analysis is a method that uses dense SNP genotyping in high-risk pedigrees to identify regions of sharing between cases. Here, we illustrate the power of SGS to identify dominant rare risk variants. Using simulated pedigrees, we consider 12 disease models based on diseas...

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Detalhes bibliográficos
Main Authors: Knight, Stacey, Abo, Ryan P, Abel, Haley J, Neklason, Deborah W, Tuohy, Therese M, Burt, Randall W, Thomas, Alun, Camp, Nicola J
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3879794/
https://ncbi.nlm.nih.gov/pubmed/22989048
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1469-1809.2012.00728.x
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